Varaico: Literature-Extracted Genetic Variants

SPG7

707 papers

RefSeq Summary

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes includi...

Pfam Domains

FtsH_extaa 142–242UCSCFtsH Extracellular

AAAaa 345–479UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_3aa 506–547UCSCAAA+ lid domain

Peptidase_M41aa 561–746UCSCPeptidase family M41

Gene Aliases

HGNC Name

SPG7 matrix AAA peptidase subunit, paraplegin

HGNC Previous Symbol

CMAR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003119.4

p.M667I

c.2001G>A

Surrounding Variants

2 papers

NM_003119.4

p.M667I

c.2001G>C

2 papers

NM_003119.4

p.M667I

c.2001G>T

1 paper

NM_003119.4

p.M667fs

c.1999_2000fs

1 paper

NM_003119.4

p.M667fs

c.1999_2000fs

4 papers

NM_003119.4

p.G666V

c.1997G>T

8 papers

NM_003119.4

p.G666R

c.1996G>A

8 papers

NM_003119.4

p.G666R

c.1996G>C

1 paper

NM_003119.4

p.G670_A679del10

c.2008_2036del30

7 papers

NM_003119.4

p.G672R

c.2014G>A

7 papers

NM_003119.4

p.G672R

c.2014G>C

4 papers

NM_003119.4

p.K663*

c.1987A>T

2 papers

NM_003119.4

p.Q664del1

c.1990_1992delCAG